8 citations
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December 2022 in “International journal of molecular sciences” This review discusses phenotypic differences in testosterone production between mice and humans with HSD17B3 deficiency and reports no new findings; the authors highlight potential pathways and enzymes involved in testosterone synthesis.
November 2025 in “PubMed” This study identified nine pathogenic variants in the PADI3 gene, and variants in the S100A3 and TCHH genes, which may disrupt protein function and contribute to central centrifugal cicatricial alopecia.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
14 citations
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March 2022 in “Journal of Biomedical Science” In this study, Cyanidin 3-O-arabinoside was found to protect against DHT-induced dermal papilla cell senescence and mitochondrial dysfunction in androgenetic alopecia, restoring hair growth in mouse models.
59 citations
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May 2017 in “Scientific reports” This study found that ZDHHC13 deficiency in mice is associated with abnormal liver function, lipid metabolism issues, and impaired mitochondrial function, highlighting ZDHHC13's regulatory role in liver metabolism.
April 2024 in “Cellular signalling” This study on mice found that activating TRPML channels with MLSA1 promoted hair regeneration, accelerated hair cycle transition, and influenced human dermal papilla cells to secrete hair growth promoting factors while reducing hair growth inhibitors and oxidative damage.
This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.
2 citations
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April 2008 in “PubMed” This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
5 citations
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June 2008 in “British Journal of Dermatology”
1 citations
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January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that Dicer, but not Tarbp2, plays a crucial role in regulating the growth phase of hair follicles in bulge stem cells during post-natal development in mice.
1 citations
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May 2015 in “Experimental Dermatology” This study found that constitutive activation of Stat3 in transgenic mice led to impaired hair growth and structural disorganization due to aberrant regulation of hair follicle and cytoskeletal genes.
47 citations
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April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
5 citations
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September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
54 citations
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May 2001 in “Journal of Investigative Dermatology” This study suggests that increased putrescine levels may disrupt normal hair follicle development in transgenic mice, leading to hair loss and altered skin structure, yet these mice appear more resistant to skin tumorigenesis.
2 citations
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October 2023 in “Cancer Reports” This study found that colorectal cancer patients could be categorized into two groups based on mitochondrial-related gene features, with distinct survival outcomes and tumor microenvironment characteristics, suggesting these features could inform individualized treatment plans.
32 citations
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March 2018 in “Neoplasia” This study suggests that nephronectin (NPNT) could serve as a novel prognostic marker for poor prognosis in a subgroup of breast cancer patients, associated with specific NPNT staining patterns.
17 citations
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August 2015 in “Journal of Animal Science” In this study, researchers found that specific SNPs in the MTR gene are significantly associated with wool production and quality traits in Chinese Merino sheep, suggesting the gene's potential for sheep breeding.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
5 citations
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April 2024 in “Molecular Biology Reports” 58 citations
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November 1969 in “British Journal of Dermatology” This report describes two patients with ichthyosis linearis circumflexa exhibiting symptoms resembling Netherton's disease, noting multiple hair shaft defects and discussing a possible connection to aminoaciduria.
June 2026 in “Journal of Dermatological Science” This study found that a topical formulation containing DMG-Na significantly improved hair loss parameters in people experiencing hair loss, suggesting its potential effectiveness for such conditions.
November 2025 in “The Journal of Immunology” This study observed that in human scalp hair follicles, BTNL2 expression is lower in stressed conditions, which correlates with increased cytotoxic activity by gamma/delta and CD8+ T cells, suggesting a possible role for BTNL2 in controlling immune responses relevant to alopecia areata.
18 citations
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February 1992 in “Molecular Biology Reports” This study identified and characterized a murine type II hair keratin, demonstrating its presence in specific cells of hair and tongue tissues.
38 citations
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April 2017 in “PLOS Genetics” This study found that human progenitor keratinocytes form unique complements of enhancers and super-enhancers during differentiation and migration, influencing gene expression and skin disease variant enrichment.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.
11 citations
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November 2019 in “The FASEB Journal” In this study, a missense mutation in the MAP2 gene was found to be associated with reduced hair follicle density, leading to the hairless phenotype in pigs.
13 citations
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November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
21 citations
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January 2006 in “Hormone Research in Paediatrics” In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.
April 2026 in “Proceedings of the National Academy of Sciences” In this study, Tmem30b was identified as a key regulator of outer hair cell structure in mice, and its modulation may offer a therapeutic approach for certain types of hearing loss.
This study found that Mdm2 is critical for limiting p53 activity to maintain normal stem cell function in mouse skin, with impacts on tissue homeostasis and aging.